Mein Charles A, Caulfield Mark J, Dobson Richard J, Munroe Patricia B
Clinical Pharmacology and the Genome Centre, The William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK.
Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R169-75. doi: 10.1093/hmg/ddh078. Epub 2004 Feb 5.
Essential hypertension affects 1 billion people worldwide and its genetic basis is well established. For this review we surveyed the literature on the genetics of hypertension during the past 18 months and we now report the highlights. There has been publication of the two largest genome scans for blood pressure and new loci including significant linkage to chromosome 6q have been reported. The molecular basis of Gordon's syndrome has been partially unravelled with a dual function for WNK4 in ion transport regulation being discovered. There has also been progress in narrowing rodent quantitative trait loci using congenic approaches and several linkage peaks have now been demonstrated to have more than one loci. We also report some of the initial findings from pharmacogenetic studies.
原发性高血压影响着全球10亿人,其遗传基础已得到充分证实。在本次综述中,我们调查了过去18个月里有关高血压遗传学的文献,并报告其中的要点。已发表了两项针对血压的最大规模全基因组扫描研究,并且有报道称发现了新的基因座,包括与6号染色体长臂的显著连锁。戈登综合征的分子基础已部分阐明,发现了WNK4在离子转运调节中的双重功能。在利用同源近交系方法缩小啮齿动物数量性状基因座方面也取得了进展,现已证明几个连锁峰包含不止一个基因座。我们还报告了药物遗传学研究的一些初步发现。